bioRxiv Genomics· Ridgley, T., Chovanec, P., He, S., Yin, Y. ·· 20 hours agoPickScore51
Robust Chromosome Segmentation in Sparse Single-Cell Whole-Genome Sequencing Using a k-Segment Constrained Hidden Markov Model
In brief
Ridgley et al. propose a k-segment constrained hidden Markov model that limits the maximum number of state transitions, enabling robust segmentation for LOH (loss of heterozygosity) in sparse single-cell whole-genome sequencing. Benchmarked against sci-L3-Strand-seq segmentation, which resolves all seven mitotic crossover outcomes, the method achieved 86% LOH recall and 88% precision.
Why it matters
Applies a transition-limited HMM to sparse single-cell WGS and benchmarks it against segmentation resolving seven mitotic crossover outcomes.
Source: bioRxiv Genomics · biorxiv.org